TY - JOUR
T1 - Screening for Lynch syndrome and referral to clinical genetics by selective mismatch repair protein immunohistochemistry testing
T2 - An audit and cost analysis
AU - Colling, Richard
AU - Church, David N.
AU - Carmichael, Juliet
AU - Murphy, Lucinda
AU - East, James
AU - Risby, Peter
AU - Kerr, Rachel
AU - Chetty, Runjan
AU - Wang, Lai Mun
PY - 2015/12
Y1 - 2015/12
N2 - Lynch syndrome (LS) accounts for around 3% of colorectal cancers (CRCs) and is caused by germline mutations in mismatch repair (MMR) genes. Recently, screening strategies to identify patients with LS have become popular. We audited CRCs screened with MMR immunohistochemistry (IHC) in 2013. 209 tumours had MMR IHC performed at a cost of £12 540. 47/209 (21%) cases showed IHC loss of expression in at least one MMR protein. 28/44 cases with loss of MLH1 had additional BRAF V600E testing, at a cost of £5040. MMR IHC reduced the number of potential clinical genetics referrals from 209 to 47. BRAF mutation testing, performed in a subset of cases with MLH1 loss, further reduced this to 21. At a cost of £1340 per referral, this model of LS screening for clinical genetics referral had significant potential savings (£234 340) and can be easily implemented in parallel with MMR IHC done for prognostication in CRCs.
AB - Lynch syndrome (LS) accounts for around 3% of colorectal cancers (CRCs) and is caused by germline mutations in mismatch repair (MMR) genes. Recently, screening strategies to identify patients with LS have become popular. We audited CRCs screened with MMR immunohistochemistry (IHC) in 2013. 209 tumours had MMR IHC performed at a cost of £12 540. 47/209 (21%) cases showed IHC loss of expression in at least one MMR protein. 28/44 cases with loss of MLH1 had additional BRAF V600E testing, at a cost of £5040. MMR IHC reduced the number of potential clinical genetics referrals from 209 to 47. BRAF mutation testing, performed in a subset of cases with MLH1 loss, further reduced this to 21. At a cost of £1340 per referral, this model of LS screening for clinical genetics referral had significant potential savings (£234 340) and can be easily implemented in parallel with MMR IHC done for prognostication in CRCs.
UR - http://www.scopus.com/inward/record.url?scp=84958151045&partnerID=8YFLogxK
U2 - 10.1136/jclinpath-2015-203083
DO - 10.1136/jclinpath-2015-203083
M3 - Article
C2 - 26201544
AN - SCOPUS:84958151045
SN - 0021-9746
VL - 68
SP - 1036
EP - 1039
JO - Journal of Clinical Pathology
JF - Journal of Clinical Pathology
IS - 12
ER -
